Evidence map›Paper›PMID 39753826›Full record

ArticleCerebellum (London, England)2025

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.

Jake Sossamon, Patrick O'Connell, David P W Rastall

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Jake SossamonMedical University of South Carolina College of Medicine, 171 Ashley Ave, Charleston, SC, USA.
Patrick O'ConnellThe Icahn School of Medicine at Mount Sinai, Mount Sinai Kravis Children's Hospital, 1184 5th Ave, New York, NY, USA.
David P W RastallDepartment of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA. drastal1@jhmi.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype. Management was focused on symptomatic treatment and genetic counseling. This case highlights the importance of considering DNMT1 mutations in patients with a similar clinical presentation.

Indexed as

Cerebellar AtaxiaDNA (Cytosine-5-)-Methyltransferase 1MutationBilateral VestibulopathyFemaleHumansMiddle AgedDNA (Cytosine-5-)-Methyltransferase 1DNMT1 protein, humanCANVASCerebellar ataxiaDNMT1Peripheral neuropathyVestibular dysfunction

Identifiers

PMID39753826

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.